Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient

The clinical and cytogenetic data of the first patient proven to belong to the fifth Fanconi anemia complementation group are described. The Turkish boy presented with psychomotoric retardation, growth retardation, retarded bone age, brachycephaly, hypotelorism, epicanthus, syndactyly, brachydactyly, renal dystopia, and cryptorchism. In addition, an asymmetrical skeletal anomaly was seen with a double distal phalanx of the left thumb and hypoplasia of the right thumb. Typical hematological features of the disorder developed, at the age of 2.5 years, about 1 year after diagnosis. Cytogenetic studies confirmed the clinical diagnosis and revealed a spontaneous chromosomal instability and hypersensitivity to the cross-linking agents diepoxybutane and Trenimon. The findings in the patient, who is considered to be the standard for the fifth Fanconi anemia complementation group, are compared with data reported for other patients affected with Fanconi anemia.     

The impact of health policy on chiropractic

BACKGROUND: The presence of a genetic factor in the determination of leprosy has long been debated. This study tests whether the HLA-linked control of susceptibility to leprosy and/or for the types of leprosy could be confirmed. MATERIALS AND METHODS: In 15 multicase families, the method of DeVries et al., 1976, was used to detect nonrandom segregation of parental HLA haplotypes in their affected and healthy siblings. Linkage analyses, for two and three alleles were performed by the computer program LIPED: RESULTS: For the affected siblings, the segregations of the parental HLA haplotype were significantly nonrandom from the healthy parents and random from the affected parents, indicating that affected siblings were sharing their HLA haplotypes (segregated from the healthy parents) more than expected. The segregations to the healthy siblings from both the healthy and affected parents were random. Healthy siblings inherited the haplotypes shared among the leprosy siblings randomly as expected. There were excess DR2/DR2 homozygote individuals among tuberculoid siblings. The highest lod score was achieved when we considered our suggested three-alleles model for the susceptibility to the different types of leprosy. CONCLUSIONS: A closely HLA-linked gene on chromosome number 6 with multiple alleles (3 or more) in recombination fraction between 0.05 and 0.1 with 70 to 100% penetrance may be responsible for the susceptibility to the different types of leprosy, whereas the susceptibility to leprosy per se maybe the responsibility of non-HLA linked gene/s. DR2/DR2 homozygote individuals may be relatively at high risk of developing leprosy or tuberculoid leprosy.     

Anesthesia practice and infectious diseases: meeting the challenges of a changing practice environment

The safety and pharmacokinetics of L-627, a new injectable carbapenem antibiotic, were evaluated in healthy volunteers. In single-dose studies, 20, 40, 80, 150, 300 and 600 mg of L-627 were administered by i.v. infusions over 1 hour. Plasma concentration-time profiles were well described with a two-compartment open model. The half-life of elimination from plasma was 1.3 +/- 0.8 (mean +/- SD) hour, and the Cmax and AUC paralleled the doses given. The mean urinary recovery of unchanged L-627 within the first 12 hours was 63.1 +/- 2.7% of the dose. In the multiple-dose studies, 300 mg of L-627 (i.v. over 1 hour) was administered every 12 hours, 11 times in total and 600 mg of L-627 was administered every 12 hours, 9 times in total. No discernible accumulation of the drug in plasma was observed. There were no subjective or objective abnormal findings definitely attributable to the drug except that one subject in one of the multiple-dose regimens (300 mg b.i.d.) showed only a slight elevation of transaminase value, although the elevated value promptly recovered after completion of dosing. No abnormality was observed in the other multiple-dose regimen (600 mg b.i.d.). From these results, L-627 was concluded to be safe and well tolerated.     

Sensor-tissue interactions in neurochemical analysis with carbon paste electrodes in vivo

Characterization of voltammetric signals recorded with microelectrodes in the living brain is fraught with difficulties. In addition to being anatomically complicated, brain tissue presents the analytical electrochemist with a complex chemical environment that includes surfactants (lipids), electrode poisons (proteins), electrocatalysts such as glutathione and ascorbic acid, and a tissue matrix that both restricts mass transport to the electrode surface and reacts physiologically to the presence of the probe. Identification of electrochemical signals recorded in vivo with carbon paste electrodes is discussed in the context of these problems. This examination shows that modification of both the electrode surface by tissue, and of the tissue environment by the electrode have important implications for voltammetric signal analysis in vivo. Despite these problems, valuable data on the relationship between behaviour and chemical changes in the brain can be obtained using in vivo electrochemical techniques.     

Application of polymerase chain reaction for the correlation of Salmonella serovars recovered from greyhound feces with their diet

The polymerase chain reaction was employed to correlate Salmonella serovars isolated from fecal material of greyhounds suffering from gastroenteritis with those isolated from the diet fed to the greyhounds prior to onset of diarrhea. Kennels around the Abilene, Kansas, area were contacted and supplied with materials needed to collect a portion of the diet each day. With the onset of diarrhea, the kennels were instructed to ship the fecal material and diet from the previous 10 days to the laboratory for testing. Forty-one fecal samples and corresponding diets were screened for Salmonella, Clostridium perfringens, Campylobacter jejuni, Staphylococcus aureus, Staphylococcus intermedius, and pathogenic (piliated) Escherichia coli by direct culture using standard procedures. The fecal material was also screened for coronavirus and parvovirus using electron microscopy. Thirty-five "normal" fecal samples were screened for all of the above mentioned microorganisms as a control. In addition, the fecal material was screened for E. coli verotoxins I and II and clostridial enterotoxins. A total of 61 Salmonella isolates were recovered from the 41 samples of feces and diet submitted for testing; 31 were recovered from the feces and 30 from the diet. Four Salmonella isolates were recovered from the normal fecal samples. Results obtained by PCR, plasmid profiles, antigenic analysis, and antibiogram profiles indicated that 16 of the 31 isolates recovered from the fecal material were the same strain as that recovered from the diet.     

Acute effect of inorganic iodide after 131I therapy for hyperthyroidism

Patients treated with inorganic iodide weeks to years following 131I therapy for hyperthyroidism do not adapt to its antithyroid effect. To determine whether such adaptation occurs soon after 131I therapy, serum thyroxine (T4) and triiodothyronine (T3) concentrations were measured daily for 9-14 days following 131I therapy in seventeen hyperthyroid patients. Nine patients received 150 mg KI daily starting 48 h after 131I administration; eight received only 131I. Serum T4 and T3 concentrations did not change significantly in the patients who received only 131I. In the patients who received 131I and KI, serum T4 and T3 concentrations fell promptly, reaching nadir values 2-10 days after initiation of iodide, and then increased despite continuation of KI therapy. The mean maximal fall in serum T4 was 34% and in serum T3 42%. These results show that "escape" from the acute anti-thyroid effect of iodide occurs when it is given immediately after 131I therapy, thus limiting the utility of iodide as a therapeutic agent at this time.     

Inhibition of feline collateral vessel development following experimental thrombolic occlusion

We compared development of feline hindlimb collateral circulation after acute occlusion of the terminal aorta by ligation, thrombus formation, and formation of a "closed" aortic loop containing thromboplastin. Collateral circulation development was assessed by aortograms, scintillation scans, neurological signs following occlusion, measurement of hindlimb muscle blood flow, and forelimb and hindlimb temperature. In cats in which aortic occlusion was the result of ligation or thromboplastin in the aortic loop, paralysis was not evident. Aortograms and scintillation scans indicated hindlimb blood flow. Both muscle temperature and blood flow data indicated that the return of blood flow was rapid. The 5th lumbar artery appears to be the origin of the collateral vessels. The mid-zone component is a dorsal and ventral vertebral route and an epaxial muscle route. The reentry components are the 6th or 7th lumbar arteries. The collateral vessels arise from preexisting collateral vessels. Of those cats in which aortic occlusion was the result of a thrombus, all exhibited paralysis. Aortograms, scintillation scans, muscle temperature, and hindlimb blood flow data indicated reduced hindlimb blood flow. The results suggest that the thrombus has an inhibitory effect on the development of collateral circulation.